inherited glutathione synthetase deficiency


Forearm supination contracture

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


Type 1 congenital pulmonary airway malformation


Enlarged epiphysis of the distal phalanx of the 2nd finger


chronic idiopathic urticaria

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


Aplasia/Hypoplasia of the phalanges of the 5th toe


Abnormality of the epiphysis of the distal phalanx of the 5th finger


Small epiphysis of the proximal phalanx of the 4th finger


Abnormal circulating carnitine concentration


Absent epiphysis of the distal phalanx of the 5th finger


Rhomboid or triangular shaped 5th finger proximal phalanx


Abnormal circulating copper concentration


atrial septal defect, coronary sinus type


Elevated circulating uracil concentration


Lateral displacement of the femoral head


Anomalous coronary artery arising from the opposite sinus


Abnormal cerebral venous sinus morphology


Subluxation of the small joints of the hand


Abnormality of cardiovascular system electrophysiology


Abnormality of the distal phalanx of the 4th toe


Aplasia/Hypoplasia of the phalanges of the hand


Absent epiphysis of the proximal phalanx of the 5th finger


Stippling of the epiphysis of the middle phalanx of the 2nd finger


Focal aware cognitive seizure with dysgraphia/agraphia


Patchy sclerosis of the distal phalanx of the 5th finger


Tetralogy of Fallot with absent subarterial conus


Abnormal morphology of the proximal phalanx of the 5th toe


Posterior predominant subcortical band heterotopia


Renal tubular basement membrane denudation


Patent ductus arteriosus after premature birth


Stippling of the epiphysis of the proximal phalanx of the thumb


Decreased proportion of unswitched memory B cells


Abnormality of the epiphysis of the distal phalanx of the 4th finger


Malformation of the hepatic ductal plate


Fractured epiphysis of first metatarsal bone


Partial duplication of the proximal phalanx of the 5th toe


Focal aware cognitive seizure with memory impairment


Renal tubular epithelial cell detachment


Elevated circulating linoleylcarnitine concentration


Focal aware emotional seizure with paranoia


Decreased circulating apolipoprotein C-II concentration


Abnormal glomerular capillary lumen morphology


Periventricular white matter hypodensities


Pseudoepiphyses of the distal phalanges of the hand


Enlarged epiphysis of the proximal phalanx of the 5th finger


Abnormal circulating glutamine concentration


Abnormal circulating phospholipid concentration


Osteolytic defects of the middle phalanx of the 2nd finger


Small epiphysis of the distal phalanx of the thumb


Elevated circulating dodecenoylcarnitine concentration


Thickened glomerular basement membranes with no electron dense deposits


Cauliflower deformity of dermal collagen fibrils


Symphalangism affecting the proximal phalanx of the 3rd finger


Reduced renal corticomedullary differentiation


Anti-centromere protein B antibody positivity


Abnormal left ventricular end-diastolic volume


Complete duplication of the middle phalanx of the 3rd finger


Abnormal circulating amino acid concentration


Abnormal proximal phalanx morphology of the hand


Radial deviation of the hand or of fingers of the hand


Increased LH response to gonadotropin-releasing hormone stimulation test


Abnormal morphology of female internal genitalia


Abnormality of the epiphysis of the middle phalanx of the 3rd toe


Focal aware cognitive seizure with deja vu/jamais vu


Impaired visuospatial constructive cognition


Inactivating thyroid-stimulating hormone receptor defect


Increased circulating adrenic acid concentration


Tubular basement membrane disintegration


Abnormal distribution of CD56 bright/dim natural killer cells


Aplasia/Hypoplasia of the proximal phalanx of the 4th finger


Hypokalemic hypochloremic metabolic alkalosis


Increased circulating creatine kinase MB isoform


Irregular epiphysis of the middle phalanx of the 3rd finger


Irregular epiphyses of the phalanges of the hand


Abnormal circulating luteinizing hormone concentration


Abnormality of the musculature of the lower limbs


Abnormality of the epiphysis of the 4th metacarpal


Fibrillary glomerular subepithelial deposits


Cortical diaphyseal thickening of the upper limbs


Pseudoepiphysis of the distal phalanx of the 3rd finger


Cyclic neutropenia in myeloid maturation arrest in bone marrow


Stippling of the epiphysis of the proximal phalanx of the 2nd finger


Sclerosis of the proximal phalanx of the 2nd finger


Increased circulating thyroxine-binding globulin level


Tongue-like lumbar vertebral deformities


Intrauterine fetal demise of one twin after midgestation


Irregular epiphysis of the distal phalanx of the thumb


Increased urinary galactosylated oligosaccharide


Abnormal glomerular mesangial cellularity


Abnormality of the curvature of the vertebral column


Contracture of the distal interphalangeal joint of the 5th finger


Abnormal distribution of cell junction proteins in buccal mucosal cells


Proximal/middle symphalangism of 5th finger


Stippling of the epiphysis of the middle phalanx of the 4th finger


Increased hepatitis B virus antibody level


Posterior communicating artery infundibulum


Microvillar PAS-positive secretory granules


Decreased proportion of immature gamma-delta T cells


Duplication of the proximal phalanx of the thumb


Impaired von Willibrand factor collagen binding activity


Orofacial action-specific dystonia induced by speech


Intermittent episodes of respiratory insufficiency due to muscle weakness


Complete duplication of the middle phalanx of the 4th toe


Contracture of the distal interphalangeal joint of the 2nd toe


Abnormality of the epiphysis of the middle phalanx of the 2nd finger


Shortening of all distal phalanges of the fingers


Patchy sclerosis of the proximal phalanx of the 5th finger


Elevated circulating deoxyuridine concentration


Abnormal inferior thyroid vein morphology


Increased level of L-pyroglutamic acid in urine


Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger


Cortical radial artery intraluminal thrombi


Increased circulating very long-chain fatty acid concentration


Abnormal circulating thyroid hormone concentration


Rhomboid or triangular shaped 5th finger middle phalanx


Elevated left ventricular end-diastolic diameter


Triangular epiphysis of the proximal phalanx of the hallux


Eye of the tiger anomaly of globus pallidus


anomalous left coronary artery from the pulmonary artery


Duplication of the distal phalanx of the 3rd finger


Fractured middle phalanx of manual digit 3


Small epiphyses of the distal phalanges of the hand


Acute disseminated intravascular coagulation


Triangular shaped distal phalanx of the 4th finger


Focal aware cognitive seizure with anomia


Cone-shaped epiphysis of the proximal phalanx of the 2nd finger


Monoclonal elevation of IgG lambda chain


Paradoxical splitting of the second heart sound


Transphyseal fracture of the distal humerus


Duplication of the middle phalanx of the 2nd toe


Renal medullary interstitial inflammation


Morphological abnormality of the papillary muscles


Decreased proportion of effector memory CD8-positive, alpha-beta T cells


Partial duplication of the middle phalanx of the 3rd toe


Corticotropin-releasing hormone deficient adrenal insufficiency


Abnormal morphology of the limbic system


Abnormality of the distal phalanx of the 3rd finger


Fixated interest with abnormal intensity


Proximal/middle symphalangism of 3rd toe


Loss of ability to walk in early childhood


Enlarged epiphysis of the proximal phalanx of the hallux


Right aortic arch with left descending aorta and left ductus arteriosus


Enhanced ristocetin cofactor assay activity


Focal sensory seizure with visual features


Childhood onset short-limb short stature


Fragmentation of the epiphysis of the distal phalanx of the 4th finger


Aplasia of the inferior half of the cerebellar vermis


Focal impaired awareness cognitive seizure with deja vu/jamais vu


Abnormality of upper limb epiphysis morphology


Pseudoepiphysis of the distal phalanx of the 2nd toe


Stippling of the epiphyses of the 5th finger


Arcuate artery endoarterial foam cell hypercellularity


Abnormality of the parathyroid morphology


Premature epimetaphyseal fusion in tibia


Reduced sex -hormone binding protein level


Focal impaired awareness cognitive seizure with forced thinking


Osteolytic defects of the distal phalanx of the 2nd finger


Cone-shaped epiphysis of the proximal phalanx of the 3rd toe


Multilamellation of medullary peritubular capillary basement membranes


Decreased lymphocyte proliferation in response to mitogen


Abnormal circulating hormone concentration


Pulmonary arterial hypertension with positive acute response to NO challenge


Aortic smooth muscle cell disorganization


Bullet-shaped middle phalanges of the hand


Increased anti-insect IgE antibody level


Increased circulating ceruloplasmin concentration


leishmaniasis, tegumentary, susceptibility to


Sclerosis of the proximal phalanx of the hallux


Increased circulating inosine concentration


Ivory epiphyses of the distal phalanges of the hand


Abnormal TSH response to thyrotrophin-releasing hormone stimulation test


Abnormal glomerular mesangial matrix morphology


Parkinsonism with favorable response to dopaminergic medication


Bilateral asymmetric neonatal sequential seizure


Triangular shaped middle phalanges of the hand


Aplasia/hypoplasia involving bones of the hand


Dense calcifications in the cerebellar dentate nucleus


Focal cognitive seizure with receptive dysphasia/aphasia


Triangular shaped phalanges of the 4th toe


Pubertal developmental failure in females


Focal impaired awareness sensory seizure with somatosensory features


Decreased urine alpha-ketoglutarate concentration


Symphalangism affecting the distal phalanx of the 3rd toe


Neonatal bilateral asymmetric epileptic spasm


Complete duplication of the proximal phalanx of the 5th finger


Symphalangism affecting the proximal phalanx of the 2nd finger


Antidromic atrioventricular reentrant tachycardia


Focal impaired awareness automatism seizure


Abnormal greater sciatic notch morphology


Elevated prostate-specific antigen level


Increased circulating chylomicron concentration


Patchy sclerosis of the middle phalanx of the 2nd finger


Supraventricular tachycardia with a concealed accessory connection


Irregular epiphysis of the distal phalanx of the 3rd finger


Ph-positive acute lymphoblastic leukemia


Elevated urinary prostaglandin E2 metabolite level


Accumulation of melanosomes in melanocytes


Decreased level of histidine-rich glycoprotein


Symphalangism affecting the phalanges of the hallux


Abnormal cardiac magnetic resonance imaging finding


Patchy sclerosis of proximal phalanx of finger


Focal impaired awareness autonomic seizure with pallor/flushing


Cone-shaped epiphysis of the distal phalanx of the 5th finger


Aplasia cutis congenita over parietal area


Aplasia cutis congenita on trunk or limbs


Anti-SUMO-activating enzyme antibody positivity


Abnormal circulating antimullerian hormone concentration


Ivory epiphyses of the middle phalanges of the hand


Elevated circulating palmitoleylcarnitine concentration


Renal arteriole intima/media arteriolosclerosis


Decreased compound muscle action potential amplitude


Fractured distal phalanx of manual digit 3


Abnormal inner ear epithelium morphology


Persistent preoccupation with parts of objects


Short proximal phalanx of the 2nd finger


Abnormal bronchoalveolar lavage fluid morphology


Patchy sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphysis of the distal phalanx of the 4th toe


Abnormal circulating cysteine concentration


Functional abnormality of the middle ear


Focal aware motor seizure with paresis/paralysis


Aplasia/Hypoplasia of the middle phalanx of the 5th toe


EEG with generalized low amplitude activity


Abnormal great auricular nerve morphology


Abnormal cardiomyocyte connexin43 staining


Coarctation in the transverse aortic arch


Abnormal carbon dioxide level in cord blood


Triangular shaped proximal phalanges of the toes


Elevated circulating tetracosanoic acid concentration


Sclerosis of the proximal phalanx of the 3rd toe


Abnormality of the epiphysis of the middle phalanx of the 5th toe


Triangular shaped distal phalanx of the thumb


Abnormal peripheral action potential amplitude


Sclerosis of the middle phalanx of the 3rd toe


Multicentric ossification of proximal femoral epiphyses


Complete duplication of the first metacarpal


Aplasia/Hypoplasia of the capital femoral epiphysis


Impaired renal tubular reabsorption of bicarbonate


Loss of glomerular endothelial cell fenestration


Right ventricular outlet tract obstruction


Abnormality of central nervous system electrophysiology


Right aortic arch with retroesophageal left subclavian artery


Abnormality of lipoprotein cholesterol concentration


Abnormal interlobular vein lumen morphology


Prolonged brainstem auditory evoked potentials


Anti-tissue transglutaminase antibody positivity


Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal


Hypersegmentation of proximal phalanx of second finger


Complete duplication of the middle phalanx of the 4th finger


Fragmentation of the epiphysis of the proximal phalanx of the thumb


Focal motor seizure with paresis/paralysis


Abnormality of circulating glucocorticoid level


Respiratory insufficiency due to muscle weakness


Triangular epiphysis of the proximal phalanx of the 4th toe


Decreased glucose-6-phosphate dehydrogenase level in blood


Thinning and bulging of the posterior fossa bones


Absent ossification of capital femoral epiphysis


Focal cognitive seizure with dysgraphia/agraphia


Impaired thrombin-induced platelet aggregation


Clumping of elastic fibers in the dermis


Bilateral multifocal epileptiform discharges


Predominantly epidermal neutrophilic infiltrate


Duplication of the distal phalanx of the 5th finger


Abnormal proportion of transitional B cells


Cortical radial artery intima/media coagulative necrosis


Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio


Contracture of the metacarpophalangeal joint of the 5th finger


Ventricular preexcitation with multiple accessory pathways


Progressive extrapyramidal muscular rigidity


Aplasia/Hypoplasia of the cerebellar vermis


Abnormal middle phalanx morphology of the hand


Reduced erythrocyte 2,3-diphosphoglycerate concentration


Aplasia/Hypoplasia involving the corticospinal tracts


Ivory epiphyses of the proximal phalanges of the hand


Stippling of the epiphysis of the middle phalanx of the 3rd toe


Elevated circulating apolipoprotein C-III concentration


Osteolytic defects of the distal phalanx of the 3rd toe


Small epiphysis of the distal phalanx of the 5th finger


Duplication of the middle phalanx of the 4th finger


Abnormal nasopharyngeal adenoid morphology


Partial duplication of the middle phalanx of the 5th finger


Ivory epiphysis of the middle phalanx of the 2nd finger


Duplication of the phalanges of the 5th toe


Partial duplication of the 1st metatarsal


Bracket epiphyses of the proximal phalanges of the hand


Chronic rhinitis due to narrow nasal airway


Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT


Abnormal proportion of marginal zone B cells


Abnormality of neutrophil morphology in CSF


atrial septal defect, ostium primum type


Partial duplication of the middle phalanx of the 4th finger


Amyotrophy involving the shoulder musculature


Dextrotransposition of the great arteries


Fractured epiphysis of second metatarsal bone


Anti-beta-2-Glycoprotein I IgG antibody positivity


Abnormal circulating sex hormone concentration


Irregular epiphyses of the distal phalanges of the hand


Decreased CSF phenylalanine concentration


Patent ductus arteriosus after birth at term


Decreased circulating creatine kinase concentration


Anti-angiotensin-converting enzyme 2 antibody positivity


Anomalous branches of internal carotid artery


Complete duplication of the phalanges of the 2nd toe


Anti-thyroid-stimulating hormone receptor antibody positivity


Abnormality of the musculature of the upper limbs


Bullet-shaped distal phalanx of the 2nd finger


Arcuate artery endoarterial neutrophil hypercellularity


Anti-phospholipase A2 receptor antibody positivity


Increased proportion of transitional B cells


Polymorphic focal epileptiform discharges


Increased level of hippuric acid in blood


Fragmentation of the epiphysis of the middle phalanx of the 3rd finger


Aplasia/Hypoplasia of the 2nd metacarpal


Abnormal circulating apolipoprotein concentration


Reticulonodular pattern on pulmonary HRCT


Functional abnormality of male internal genitalia


Increased proportion of gamma-delta T cells


Abnormal CSF phenylalanine concentration


Cone-shaped epiphysis of the proximal phalanx of the 5th toe


Aplasia of the proximal phalanx of the 2nd toe


Ivory epiphyses of the phalanges of the hand


Stippling of the epiphysis of the 1st metatarsal


Osteolysis involving bones of the lower limbs


Partial duplication of the phalanges of the 3rd finger


Elevated circulating glutaric acid concentration


Abnormality of the distal tibial epiphysis


Abnormal medullary peritubular capillary morphology


Right aortic arch with mirror image branching


Partial duplication of the distal phalanx of the 2nd toe


Pseudoepiphysis of the proximal phalanx of the thumb


Anti-histidyl tRNA synthetase antibody positivity


Bullet-shaped proximal phalanx of the 2nd toe


Elevated circulating tetradecanoylcarnitine concentration


Complete heart block with narrow QRS complexes


Abnormal male internal genitalia morphology


Osteolytic defects of the phalanges of the 4th finger


Stippling of the epiphysis of the middle phalanx of the 5th toe


Increased anti-food allergen IgE antibody level


Fragmentation of the epiphysis of the middle phalanx of the 4th toe


Elevated circulating guanidinoacetic acid concentration


Abnormality of the epiphyses of the toes


Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Fragmentation of the epiphyses of the 3rd toe


Abnormal response to insulin tolerance test


Reduced volume of central subdivision of bed nucleus of stria terminalis


Pseudoepiphysis of the distal phalanx of the 3rd toe


Focal EEG discharges with secondary generalization


Irregular epiphysis of the proximal phalanx of the 3rd finger


Thickening of the lateral border of the scapula


Bone-in-a-bone appearance of carpal bones


Elevated circulating long chain fatty acid concentration


Bullet-shaped distal phalanx of the 5th toe


Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


Abnormality of peripheral nerve conduction


Patchy sclerosis of middle phalanx of finger


Contracture of the metacarpophalangeal joint of the 4th finger


Abnormal proportion of unswitched memory B cells


Abnormal calcium-phosphate regulating hormone level


Decreased proportion of naive CD8 T cells


Arcuate artery intima/media arteriosclerosis


Grade IV preterm intraventricular hemorrhage


Osteolytic defects of the proximal phalanx of the hallux


Aplasia of the proximal phalanx of the 2nd finger


Stippling of the epiphysis of the proximal phalanx of the 4th toe


Abnormal posterior cranial fossa morphology


Plantar crease between first and second toes


Double inlet to single ventricle with two atrioventricular valves


Focal sensory seizure with vestibular features


Aplasia/Hypoplasia involving the shoulder musculature


Triangular shaped distal phalanx of the hallux


Cortical radial artery intima/media multilamellation


Uric acid urolithiasis independent of gout


Fractured proximal phalanx of manual digit 1


Sclerosis of the proximal phalanx of the 4th finger


Abnormal circulating purine concentration


Abnormal circulating creatinine concentration


Anti-alanyl-tRNA synthetase antibody positivity


Contracture of the distal interphalangeal joint of the 4th toe


Abnormality of the epiphysis of the middle phalanx of the 5th finger


Prominent proximal interphalangeal joints


Enlarged epiphyses of the phalanges of the hand


EEG with photoparoxysmal response grade II


Abnormal proportion of CD8-positive T cells


Partial right sided absence of pericardium


Aplasia of the distal phalanx of the hallux


Focal aware emotional seizure with agitation


Absent bronchoalveolar dimeric surfactant-protein B


Increased circulating isovaleric acid concentration


Sclerosis of the distal phalanx of the 3rd toe


Urinary excretion of sialylated oligosaccharides


Abnormal circulating albumin concentration


Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia


Partial duplication of the proximal phalanx of the 3rd toe


Fractured epiphysis of fifth metacarpal bone


Triangular shaped middle phalanx of the 3rd finger


Cone-shaped epiphysis of the middle phalanx of the 3rd toe


Abnormal blood inorganic cation concentration


Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal


Abnormal cardiomyocyte plakoglobin staining


Complete diaphragmatic absence of pericardium


Abnormal immunoglobulin level in body fluid


Pseudoepiphyses of the middle phalanges of the hand


Dysharmonic maturation of the hand bones


Complete duplication of distal phalanx of the thumb


Triangular epiphysis of the distal phalanx of the hallux


Renal arteriole intima/media liquefactive necrosis


Abnormal left ventricular ejection fraction


Focal sensory seizure with somatosensory features


Stippling of the epiphyses of the 2nd toe


Contracture of the proximal interphalangeal joint of the 4th toe


Decreased level of 1,5 anhydroglucitol in serum


Symmetric spinal nerve root neurofibromas


Osteolytic defects of the middle phalanx of the 4th finger


Duplication of the proximal phalanx of hand


Partial duplication of the proximal phalanges of the hand


Enlarged epiphysis of the middle phalanx of the 5th finger


Enlarged epiphysis of the proximal phalanx of the 2nd toe


mitochondrial trifunctional protein deficiency


Abnormal insulin like growth factor binding protein acid labile subunit level


Partial duplication of the phalanges of the 5th finger


Small epiphysis of the proximal phalanx of the 3rd toe


Subepithelial glomerular basement membrane electron dense deposits


Partial duplication of the middle phalanges of the hand


Decreased urine bicarbonate concentration


Increased anti-seafood IgE antibody level


Elevated circulating palmitoylcarnitine concentration


Hypoplasia of mandible relative to maxilla


Enlarged epiphyses of the distal phalanges of the hand


Osteolytic defects of the middle phalanx of the 4th toe


Focal aware cognitive seizure with left-right confusion


Diffuse ribbon-like subcortical heterotopia


hereditary leiomyomatosis and renal cell cancer


Abnormality of the musculature of the upper arm


Increased level of platelet-activating factor


Radial deviation of thumb terminal phalanx


Irregular epiphysis of the distal phalanx of the 5th toe


Anti-Kelch like protein 11 antibody positivity


Bullet-shaped distal phalanx of the 3rd finger


Focal impaired awareness cognitive seizure with neglect


Unilateral hypoplasia of pectoralis major muscle


Liver kidney microsome type 1 antibody positivity


Abnormal circulating proteinogenic amino acid derivative concentration


Unilateral conductive hearing impairment


Bullet-shaped proximal phalanx of the 2nd finger


Increased circulating troponin I concentration


Fragmentation of the epiphysis of the middle phalanx of the 5th finger


Abnormality of the proximal phalanx of the 2nd finger


Rudimentary postaxial polydactyly of hands


Partial duplication of the proximal phalanx of the 2nd toe


Incomplete partition of the cochlea type II


familial thoracic aortic aneurysm and aortic dissection


Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells


Morphological abnormality of the middle ear


Contracture of the proximal interphalangeal joint of the 2nd toe


Impaired renal ltubular reabsorption of chloride


Posterior predominant thick cortex pachygyria


Cone-shaped epiphysis of the distal phalanx of the 5th toe


Bracket epiphysis of the distal phalanx of the 3rd finger


Abnormal circulating aromatic amino acid concentration


Increased urine isobutyrylglycine concentration


Complete duplication of the middle phalanx of the 5th finger


Interlobular vein intima/media liquefactive necrosis


Abnormal mandibular symphysis morphology


Bracket epiphysis of the distal phalanx of the hallux


Abnormal circulating thromboxane concentration


Abnormal intrahepatic bile duct morphology


solitary median maxillary central incisor syndrome


Abnormal morphology of phalanx of the 2nd toe


Abnormal circulating pyruvate family amino acid concentration


Focal aware cognitive seizure with dissociation


Focal impaired awareness cognitive seizure with dyscalculia/acalculia


Irregular epiphysis of the proximal phalanx of the hallux


Arcuate artery intima/media granulomatous arteriitis


Impairment of activities of daily living


Abnormal respiratory motile cilium physiology


Fragmentation of the epiphysis of the distal phalanx of the 4th toe


Bracket epiphysis of the distal phalanx of the 2nd finger


Interlobular vein intima/media granulomatous venulitis


Morphological abnormality of the saccule


Insufficient response to short acting pulmonary vasodilator


Aplasia/Hypoplasia of the phalanges of the thumb


Aplasia/Hypoplasia of the phalanges of the 5th finger


congenital total pulmonary venous return anomaly


Focal autonomic seizure with urge to urinate/defecate


Anti-glycyl tRNA-synthetase antibody positivity


Progressive cervical vertebral spine fusion


Abnormality of the distal phalanx of the 4th finger


Cortical radial artery neutrophil hypercellularity


Abnormality of superior crus of antihelix


Abnormality of the epiphysis of the 2nd metacarpal


Decreased anterioposterior diameter of lumbar vertebral bodies


Triangular shaped proximal phalanx of the hallux


Bullet-shaped phalanges of the 3rd finger


Stippling of the epiphysis of the distal phalanx of the 5th finger


pretibial dystrophic epidermolysis bullosa


Abnormality of the second metatarsal bone


Cone-shaped epiphysis of the distal phalanx of the 4th finger


Separate origin of the left anterior descending and left circumflex artery


Recurrent upper respiratory tract infections


Focal impaired awareness motor seizure with negative myoclonus


Increased circulating free T4 concentration


Abnormal blood monovalent inorganic cation concentration


Leydig cell insensitivity to gonadotropin


Decreased serum insulin-like growth factor 1


Vascular granular osmiophilic material deposition


Decreased amyloid beta 42 peptide CSF concentration


Anti-tyrosyl-tRNA synthetase antibody positivity


Smoker-inclusions in alveolar macrophages


Recurrent upper and lower respiratory tract infections


Pigmentation anomalies of sun-exposed skin


Renal tubular cytomegalovirus inclusions


Anomalous origin of one pulmonary artery from ascending aorta


Enlarged epiphysis of the distal phalanx of the thumb


Patchy sclerosis of the distal phalanx of the thumb


Functional abnormality of the gastrointestinal tract


Abnormality of the musculoskeletal system


Increased proportion of CD25+ mast cells


Increased circulating creatine kinase BB isoform


Elevated urine 3-methyl-2-oxovaleric acid level


Anti-phenylalanyl tRNA synthetase antibody positivity


Morphological abnormality of the corticospinal tract


Arcuate vein medial/intimal liquefactive necrosis


Absent epiphysis of the proximal phalanx of the 2nd toe


Anterior beaking of lower thoracic vertebrae


Decreased post-bronchodilator forced expiratory volume in one second


Aplasia of the distal phalanx of the thumb


Anti-islet antigen-2 antibody positivity


Metacarpal diaphyseal endosteal sclerosis


Triangular shaped distal phalanges of the toes


Linear C3 deposits along the epidermal basement membrane zone


Sclerosis of the proximal phalanx of the 3rd finger


Abnormal circulating citrulline concentration


short stature due to primary acid-labile subunit deficiency


Abnormal circulating proteinogenic amino acid concentration


Decreased specific antibody response to protein vaccine


Hypoplastic posterior communicating artery


Stippling of the epiphyses of the hallux


Irregular epiphyses of the proximal phalanges of the hand


Abnormality of the epiphyses of the middle phalanges of the hand


Small epiphysis of the proximal phalanx of the 5th finger


Premature fusion of phalangeal epiphyses


Abnormal sex hormone-binding globulin level


Mixed demyelinating and axonal polyneuropathy


Reduced quantity of Von Willebrand factor


Partial duplication of the middle phalanx of the 2nd finger


Aplasia of the proximal phalanx of the 4th toe


Globus pallidus hypointensity on susceptibility-weighted imaging


Abnormal pigmentation of the oral mucosa


Cortical thickening of humeral diaphysis


Focal impaired awareness head nodding automatism seizure


Enlarged epiphysis of the distal phalanx of the 5th toe


Anti-myelin oligodendrocyte glycoprotein antibody positivity


Recurrent infections in infancy and early childhood


Irregular epiphysis of the proximal phalanx of the 2nd finger


EEG with hyperventilation-induced focal epileptiform discharges


Anti-phosphatidyl ethanolamine antibody positivity


isolated focal cortical dysplasia type II


Duplication of the proximal phalanx of the 3rd toe


Anterior predominant pachygyria with 5-10 mm cortical thickness


Enlarged proximal interphalangeal joints


Abnormal circulating dicarboxylic acid concentration


Focal impaired awareness verbal automatism seizure


Abnormal circulating pyrimidine concentration


Increased glucose-6-phosphate dehydrogenase level in tissue


Glomerular endocapillary neutrophil hypercellularity


Duplication of the middle phalanx of the 3rd toe


Bullet-shaped distal phalanges of the hand


Small epiphysis of the proximal phalanx of the 4th toe


Entrapment neuropathy of suprascapular nerve


Sclerosis of the distal phalanx of the hallux


Focal impaired awareness autonomic seizure with urge to urinate/defecate


Triangular epiphysis of the middle phalanx of the 5th finger


Complete duplication of the distal phalanx of the 2nd toe


Absent epiphysis of the proximal phalanx of the 4th toe


Proximal/middle symphalangism of the 2nd finger


Focal impaired awareness autonomic seizure with lacrimation


Abnormal response to human chorionic gonadotrophin stimulation test


Abnormal atrioventricular valve morphology


beta-aminoisobutyric acid, urinary excretion of


Medullary peritubular capillary lumen organized thrombi


Ivory epiphysis of the distal phalanx of the 3rd toe


Tetralogy of Fallot with absent pulmonary valve


Elevated urinary N-acetylaspartic acid level


Osteolytic defects of the phalanges of the hallux


Anti-Y-box protein-1 antibody positivity


Shovel-shaped maxillary central incisors


Aplasia/Hypoplasia involving the femoral head and neck


Decreased number of large peripheral myelinated nerve fibers


Bullet-shaped proximal phalanges of the hand


Aplasia/hypoplasia involving forearm bones


Abnormality of exocrine pancreas physiology


Oligoclonal elevation of circulating IgM


Irregular epiphysis of the middle phalanx of the 2nd toe


Grade I preterm intraventricular hemorrhage


Anomalous origin of the left common carotid artery from the main pulmonary artery


Decreased circulating 18-hydroxycortisone level


Focal non-convulsive status epilepticus without impairment of consciousness


Dysplasia of the superior cerebellar vermis


Complete duplication of the middle phalanx of the 5th toe


Abnormal renal arteriole endothelium morphology


Aplasia/hypoplasia involving bones of the extremities


Abnormal fetal genitourinary system morphology


Abnormal appendicular skeleton morphology


Increased circulating apolipoprotein circulation


Focal aware cognitive seizure with hallucination


X-linked congenital generalized hypertrichosis


Disproportionate short-limb short stature


Aplasia/Hypoplasia of the phalanges of the 2nd finger


Triangular epiphysis of the proximal phalanx of the 2nd toe


Complete duplication of the middle phalanges of the hand


Abnormal CSF aromatic amino acid concentration


Partial duplication of the middle phalanx of the 5th toe


Lipid-laden macrophages in bronchoalveolar fluid


Absence of the reflex of the tensor tympani muscle


Progressive conductive hearing impairment


Abnormality of the peripheral nervous system


Steroid-sensitive nephrotic syndrome with frequent relapses


Increased pituitary glycoprotein hormone alpha subunit level


Triangular epiphysis of the distal phalanx of the 4th toe


Abnormality of intrinsic muscle of tongue


Focal autonomic seizure with piloerection


Increased anti-dairy protein IgE antibody level


High-frequency sensorineural hearing impairment


Mycobacterium abscessus abscessus infection


Dilatation of superior mesenteric artery


Focal aware sensory seizure with visual features


Low alkaline phosphatase of hepatic origin


Increased circulating ethanolamine concentration


Triangular shaped distal phalanx of the 5th finger


Abnormal CSF homovanillic acid concentration


Abnormal presence of ultra-large von Willebrand factor multimers


Small epiphysis of the proximal phalanx of the 5th toe


Mixed respiratory and metabolic acidosis


Aplasia/hypoplasia involving bones of the lower limbs


Increased CSF homocarnosine concentration


Reduced growth-hormone binding protein level


Pulmonary arterial hypertension with lack of acute response to NO challenge


Decreased circulating apolipoprotein AI concentration


Cone-shaped epiphyses of the middle phalanges of the hand


Triangular shaped distal phalanx of the 2nd finger


Small epiphysis of the middle phalanx of the 4th finger


Fragmentation of the epiphysis of the middle phalanx of the 5th toe


Interrupted inferior vena cava with azygous continuation


Mottled pigmentation of photoexposed areas


Focal hyperintensity of cerebral white matter on MRI


Transitional atrioventricular canal defect


Decreased circulating chenodeoxycholic acid concentration


Patchy sclerosis of the middle phalanx of the 3rd toe


Cortical radial artery intimal/medial amyloidosis


Decreased proportion of CD4+CD25+ regulatory T cells


Abnormal circulating ferritin concentration


Small epiphysis of the middle phalanx of the 5th finger


Thin proximal phalanges with broad epiphyses of the hand


Impaired phorbol myristate acetate-induced platelet aggregation


Complete left sided absence of pericardium


Increased urinary neutrophil gelatinase-associated lipocalin


Distal sensory impairment of all modalities


Perinuclear antineutrophil antibody positivity


Aplasia/Hypoplasia involving the musculature of the upper limbs


EEG with photoparoxysmal response grade III


Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis


Complete duplication of the proximal phalanx of the 2nd toe


Aplasia/hypoplasia involving the skeleton


Dermatological manifestations of systemic disorders


Fatigable weakness of swallowing muscles


Focal impaired awareness sensory seizure with hot-cold sensations


Decreased middle cerebral artery pulsatility index


Osteolytic defects of the distal phalanges of the toes


Focal aware undressing automatism seizure


Increased circulating A-type natriuretic peptide level


Soft tissue swelling of interphalangeal joints


Absent epiphysis of the distal phalanx of the thumb


Abnormality of the middle phalanges of the toes


Fetal intraventricular hemorrhage with ventriculomegaly


Abnormality of the eleventh cranial nerve


sulfite oxidase deficiency due to molybdenum cofactor deficiency type A


Contractures of the metatarsophalangeal joint of the hallux


Decreased esterified to free carnitine ratio


Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis


Enlarged epiphysis of the proximal phalanx of the 4th toe


Complete duplication of the distal phalanx of the 3rd toe


Bullet-shaped middle phalanx of the 4th toe


Contractures of the distal interphalangeal joint of the 5th toe


Increased renal tubular phosphate reabsorption


Abnormal peripheral nervous system synaptic transmission


Increased VLDL cholesterol concentration


Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Calcification of the auricular cartilage


EEG with occipital epileptiform discharges


Failure to thrive secondary to recurrent infections


Focal aware autonomic seizure with pupillary dilation/constriction


Atrophy/Degeneration affecting the central nervous system


Impaired renal tubular reabsorption of low molecular weight protein


Abnormal glucose-6-phosphate dehydrogenase level in leukocytes


Decreased CSF homovanillic acid concentration


Elevated circulating reverse T3 concentration


Increased urinary renal tubular epithelial cell count


Renal arteriole endoarterial hypercellularity


Partial-complete absence of 5th phalanges


Anti-phosphatidyl choline antibody positivity


Mixed hypo- and hyperpigmentation of the skin


Abnormal circulating metabolite concentration


Recurrent Serratia marcescens infections


Enlarged epiphyses of the middle phalanges of the hand


Triangular shaped phalanges of the hallux


Partial duplication of the middle phalanx of the 3rd finger


Premature epimetaphyseal fusion in fibula


Fragmentation of the epiphysis of the distal phalanx of the 5th finger


Glomerular subepithelial immune-complex deposits


Abnormal brain positron emission tomography


Abnormality of vertebral epiphysis morphology


Moderate sensorineural hearing impairment


Stippling of the epiphysis of the distal phalanx of the 4th toe


Agenesis of primary mandibular lateral incisor


Abnormality of the epiphysis of the 1st metatarsal


Deep dermal perivascular inflammatory infiltrate


Elevated alkaline phosphatase of bone origin


Enlarged epiphysis of the middle phalanx of the 4th finger


Stenosis of the medullary cavity of the long bones


Abnormal fetal cardiovascular morphology


Aplasia/Hypoplasia of the cerebral white matter


Triangular epiphysis of the middle phalanx of the 2nd finger


Increased circulating corticosterone level


Renal tubular epithelial cell cytoplasmic vacuolization


EEG with generalized slow activity grade 2


Stippling of the epiphysis of the distal phalanx of the 3rd toe


Duplication of the middle phalanx of the 5th finger


Aplasia/Hypoplasia of the middle phalanx of the 2nd toe


congenital hypothalamic hamartoma syndrome


Abnormality of musculature of soft palate


Impaired vibration sensation in the lower limbs


Anomalous origin of the circumflex artery from the right sinus of Valsalva


Low urinary cyclic AMP response to PTH administration


Abnormality of the pancreatic islet cells


Stippling of the epiphysis of the middle phalanx of the 4th toe


internal carotid arteries, hypoplasia of


Impaired convulxin-induced platelet aggregation


Contracture of the tarsometatarsal joint of the hallux


peripheral primitive neuroectodermal tumor


Neonatal electro-clinical clonic seizure


Abnormal circulating creatine kinase concentration


Subluxation of metacarpal phalangeal joints


Increased density of long bone diaphyses


Abnormality of the fifth metatarsal bone


Ivory epiphysis of the middle phalanx of the 3rd finger


Renal arteriole intimal/medial multilamellation


Irregular epiphysis of the 1st metacarpal


Ivory epiphysis of the middle phalanx of the 3rd toe


Elevated urinary 3-methylcrotonylglycine level


Abnormal response to ACTH stimulation test


Congenital conductive hearing impairment


Distal/middle symphalangism of 4th finger


Focal aware sensory seizure with auditory features


Abnormal proportion of CD4+ effector memory cells


Abnormality of the musculature of the hand


Abnormal placental adhesion into the uterine wall


Focal impaired awareness emotional seizure with pleasure


Fusiform ascending tubular aorta aneurysm


Fragmentation of the epiphysis of the 1st metatarsal


Aplasia/Hypoplasia of the middle phalanx of the 4th toe


Avoidance of stimuli associated with traumatic event


Symphalangism affecting the middle phalanx of the 4th toe


Abnormal renal tubular epithelial morphology


Abnormal cortical radial artery lumen morphology


Patchy sclerosis of distal phalanx of finger


Abnormal inferior alveolar artery morphology


Chronic partially decreased circulating IgG2


Aplasia of the middle phalanx of the 4th toe


Insulin-dependent but ketosis-resistant diabetes


Abnormal circulating biopterin concentration


Increased level of L-glutamic acid in blood


Proximal femoral metaphyseal irregularity


Abnormal B-type natriuretic peptide level


Triangular epiphysis of the distal phalanx of the 2nd finger


Agenesis of primary maxillary lateral incisor


Elevated circulating 1-methylhistidine concentration


Osteolytic defects of the middle phalanx of the 5th finger


Anti-phosphatidyl inositol antibody positivity


Absent peripheral lymph nodes in presence of infection


Partial duplication of the middle phalanx of the 2nd toe


Osteoarthritis of the first carpometacarpal joint


Focal impaired awareness cognitive seizure with anomia


Partial duplication of the phalanges of the 4th finger


Abnormality of the phalanges of the 3rd toe


Respiratory failure requiring assisted ventilation


Abnormality of the epiphysis of the middle phalanx of the 4th toe


Abnormality of the proximal radial epiphysis


Anti-angiotensin receptor type-1 antibody positivity


Anterior displacement of the papillary muscles


Contracture of the proximal interphalangeal joint of the 5th finger


Contracture of the distal interphalangeal joint of the 2nd finger


Abnormality of the vitamin B3 metabolism


Aplasia/Hypoplasia of the middle phalanx of the 5th finger


Abnormal distal phalanx morphology of finger


Complete duplication of the middle phalanx of the 2nd finger


Triangular epiphysis of the middle phalanx of the 4th finger


Mottled pigmentation of the trunk and proximal extremities


Focal aware emotional seizure with pleasure


Osteolytic defects of the distal phalanx of the 5th toe


Abnormal circulating complement factor H related protein 1 concentration


Cytoplasmic antineutrophil antibody positivity


Abnormal CSF alpha-aminobutyrate concentration


Abnormal platelet phosphatidylserine exposure


Abnormal cerebral white matter morphology


Decreased sensory nerve conduction velocity


Abnormal circulating proline concentration


Stippling of the epiphysis of the middle phalanx of the 5th finger


Focal impaired awareness orofacial automatism seizure


Left ventricular outflow tract obstruction


Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger


Bicuspid aortic valve with right-noncoronary cusp fusion


Abnormal CSF aspartate family amino acid concentration


Stippling of the epiphysis of the distal phalanx of the hallux


Increased annexin V binding to platelet phosphatidylserine


Oligoclonal elevation of circulating IgE


Triangular shaped distal phalanx of the 5th toe


Renal interstitial IgG4+ plasma cell infiltration


Osteolytic defects of the phalanges of the 3rd finger


Stippling of the epiphysis of the proximal phalanx of the 5th finger


Osteolytic defects of the distal phalanx of the 5th finger


Increased urine alpha-ketoglutarate concentration


Aplasia/Hypoplasia involving the central nervous system


Supraventricular tachycardia with a manifest accessory pathway on the left free wall


Anomalous origin of the left common carotid artery from the brachiocephalic artery


Focal impaired awareness hyperkinetic seizure


Stippling of the epiphyses of the 2nd finger


Neonatal electro-clinical sequential seizure


Anti-muscle-specific tyrosine kinase antibody


Reduced ratio of renal calcium clearance to creatinine clearance


hyperlipidemia, familial combined, LPL related


Two carpal ossification centers present at birth


Abnormal cardiomyocyte mitochondrial morphology


Increased serum bile acid concentration during pregnancy


Single atrioventricular valve regurgitation


Abnormal urine hexanoylglycine concentration


Abnormal circulating phenylalanine concentration


Increased urinary excretion of galactosyl hydroxylysine


EEG with centrotemporal epileptiform discharges


Anti-steroid 17alpha-hydroxylase antibody positivity


Increased circulating immature neutrophil count


Unfavorable response of muscle weakness to acetylcholine esterase inhibitors


Contracture of the proximal interphalangeal joint of the 3rd finger


Ivory epiphysis of the proximal phalanx of the 5th finger


Elevated circulating ribitol concentration


Tip variant segmental glomerulosclerosis


Increased proportion of CD8-positive, alpha-beta memory T cells


Abnormal uridine diphosphate glucose-4-epimerase level in plasma


Abnormality of the epiphysis of the proximal phalanx of the 2nd toe


Fragmentation of the metacarpal epiphyses


Patchy sclerosis of the distal phalanx of the 4th toe


Increased circulating creatine kinase MM isoform


Abnormal basal ganglia MRI signal intensity


Fractured epiphysis of third metacarpal bone


Complete duplication of proximal phalanx of the thumb


Absent epiphysis of the proximal phalanx of the hallux


Stippling of the epiphysis of the distal phalanx of the 4th finger


lysosomal storage disease with skeletal involvement


Irregular epiphysis of the middle phalanx of the 2nd finger


Contracture of proximal interphalangeal joints of 2nd-5th fingers


Osseous atresia of the external auditory canal


Anti-side-chain cleavage enzyme antibody positivity


Decreased proportion of central memory CD4-positive, alpha-beta T cells


Aplasia of the distal phalanx of the 3rd finger


Anti-neutrophil elastase antibody positivity


Symphalangism of middle phalanx of 5th finger


Abnormality of circulating catecholamine level


Abnormality of the reflex of the tensor tympani muscle


Abnormality of the epiphyses of the 2nd toe


Reduced response to gonadotropin-releasing hormone stimulation test


Cone-shaped epiphysis of the proximal phalanx of the thumb


Focal friction-related palmoplantar hyperkeratosis


Advanced ossification of the humeral epiphysis


Increased CSF homovanillic acid concentration


Partial duplication of the phalanges of the 2nd finger


Renal arteriole intima/media storage material accumulation


Ivory epiphysis of the distal phalanx of the 5th finger


Aplasia/Hypoplasia of the phalanges of the 4th toe


Epiphyseal stippling of finger phalanges


Abnormal diffusion weighted cerebral MRI morphology


Anomalous origin of the right subclavian artery from the descending aorta


EEG with periodic lateralized epileptiform discharges


Pseudoepiphysis of the middle phalanx of the 3rd toe


Elevated circulating acetone concentration


Elevated circulating thymidine concentration


Linear IgA deposits along the epidermal basement membrane zone


Absent epiphysis of the middle phalanx of the 4th finger


Abnormal circulating ethanolamine concentration


Absence of intermediate von Willibrand factor multimers


Decreased circulating IgG subclass level


Deviation of the hand or of fingers of the hand


Anomalous origin of right pulmonary artery from ascending aorta


Triangular shaped proximal phalanx of the thumb


Pointed proximal second through fifth metacarpals


Abnormal glucose-6-phosphate dehydrogenase level


Stippling of the epiphyses of the distal phalanges of the hand


Abnormal circulating alanine concentration


Absent epiphysis of the proximal phalanx of the 5th toe


Elevated circulating decenoylcarnitine concentration


Decreased number of sternal ossification centers


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency


Fragmentation of the epiphysis of the 1st metacarpal


Arcuate artery endoarterial leukocyte hypercellularity


Underdeveloped superior crus of antihelix


Abnormal posterior circulating artery morphology


Symphalangism of middle phalanx of 2nd finger


Elevated urinary collagen degradation products


Glomerular basement membranes powdery deposit


Narrow vertebral interpedicular distance


46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency


Type 2 congenital pulmonary airway malformation


Fractured middle phalanx of manual digit 2


Skin dimple over apex of long bone angulation


Anti-SUMO-activating enzyme subunit 2 antibody positivity


Generalized reticulate brown pigmentation


Triangular shaped phalanges of the 4th finger


EEG with persistent abnormal rhythmic activity


Focal impaired awareness emotional seizure


Increased proportion of central memory CD8-positive, alpha-beta T cells


Aplasia involving bones of the lower limbs


Moderate intrauterine growth retardation


Abnormal umbilical cord blood vessel morphology


Small epiphysis of the distal phalanx of the 2nd toe


Decreased circulating luteinizing hormone level


Sclerosis of the distal phalanx of the 5th toe


Small epiphysis of the proximal phalanx of the 2nd finger


Contracture of the distal interphalangeal joint of the fingers


Duplication of the proximal phalanx of the 3rd finger


Abnormal branching pattern of the aortic arch


Duplication of the middle phalanx of the 3rd finger


Aplasia of the proximal phalanx of the 5th finger


Abnormality of alkaline phosphatase level


Abnormal urinary 1-methylhistidine concentration


Dentinogenesis imperfecta of primary and permanent teeth


Abnormal circulating corticosterone level


Increased circulating brain natriuretic peptide concentration


Multifocal hyperintensity of cerebral white matter on MRI


Abnormal urinary 3-methylhistidine level


Epiphyseal stippling of the first metacarpal


Absent epiphysis of the distal phalanx of the hallux


Abnormality of the phalanges of the 4th toe


Abnormal circulating free T3 concentration


Cortical diaphyseal irregularity of the upper limbs


congenitally corrected transposition of the great arteries


Focal T2 hyperintense basal ganglia lesion


Cortical peritubular capillary lumen organized thrombi


Excessive skin wrinkling on dorsum of hands and fingers


Absent epiphysis of the middle phalanx of the 5th finger


Increased glucose-6-phosphate dehydrogenase level in blood


Abnormality of dorsoventral patterning of the limbs


Bilateral superior vena cava with no bridging vein


Focal cognitive seizure with left-right confusion


Absent epiphysis of the distal phalanx of the 3rd toe


Elevated circulating stearoylcarnitine concentration


Impaired collagen-related peptide-induced platelet aggregation


Absent epiphysis of the proximal phalanx of the 4th finger


Increased urinary squamous epithelial cell count


Cleft at the superior portion of the pinna


Elevated circulating lyso-globotriaosylsphingosine concentration


Decreased circulating follicle stimulating hormone concentration


Mucinous cystic neoplasm of the pancreas


Abnormality of anterior ethmoidal artery


Renal interstitial non-necrotizing granulomas


Partial duplication of the distal phalanx of the 5th toe


Elevated circulating luteinizing hormone level


Glomerular hyaline subepithelial deposits


Abnormal circulating follicle-stimulating hormone concentration


Lower thoracic interpediculate narrowness


Recurrent Haemophilus influenzae infections


Abnormality of female external genitalia


Myoclonic status epilepticus without coma


Response to drugs acting on neuromuscular transmission


Absence of Lutheran antigen on erythrocytes


congenital partial pulmonary venous return anomaly


Abnormal CSF pyruvate family amino acid concentration


Anti-carbonic anhydrase VI antibody positivity


Increased circulating gonadotropin level


Enlarged epiphysis of the middle phalanx of the 3rd finger


Fragmentation of the epiphyses of the 3rd finger


Increased level of circulating aspartic acid


Abnormality of the middle phalanx of the 3rd toe


Cone-shaped epiphysis of the 1st metacarpal


Fragmentation of the epiphyses of the toes


Agenesis of permanent maxillary central incisor


Tetralogy of Fallot with atrioventricular canal defect


EEG with localized low amplitude activity


Abnormal circulating asparagine concentration


Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal


Enlarged epiphysis of the proximal phalanx of the 2nd finger


Hypoplastic anterior limbs of the internal capsule


Fragmentation of the epiphyses of the middle phalanges of the hand


Symphalangism affecting the phalanges of the 4th toe


Reduced antigen-specific T cell proliferation


Renal interstitial plasma cell infiltration


Symphalangism affecting the phalanges of the toes


Pulmonary situs ambiguus with bilateral morphologic left lungs


Increased proportion of naive CD4 T cells


Duplication of the middle phalanx of hand


Abnormal circulating serine concentration


Arcuate intimal/medial granulomatous venulitis


Female external genitalia in individual with 46,XY karyotype


Morphological abnormality of the pyramidal tract


Osteolytic defect of the proximal phalanx of the thumb


Obliterative abnormality of the renal glomerulus


Chronic hepatitis due to cryptosporidium infection


Abnormal branching pattern of left aortic arch


Sclerosis of the proximal phalanx of the 5th toe


Enlarged epiphysis of the distal phalanx of the 4th toe


Abnormal cellular composition of bronchoalveolar fluid


Recurrent Staphylococcus aureus infections


Cortical radial artery medial/intimal granulomatous arteriitis


Multinucleated visceral epithelial cells


Contracture of the metatarsophalangeal joint of the 2nd toe


Periventricular white matter hyperintensities


Neonatal seizure with bilateral symmetric automatism


Focal impaired awareness perseverative automatism seizure


Focal cognitive seizure with conduction dysphasia/aphasia


Increased subcutaneous truncal adipose tissue


Type 1 and type 2 muscle fiber minicore regions


Abnormal circulating thyroglobulin level


Anti-isoleucyl tRNA-synthetase antibody positivity


Decreased pre-bronchodilator forced vital capacity


Increased anti-meat allergen IgE antibody level


Neonatal bilateral asymmetric myoclonic seizure


Recurrent Burkholderia cepacia infections


Enlargement of the proximal femoral epiphysis


Impaired arachidonic acid-induced platelet aggregation


Nontuberculous mycobacterial pulmonary infection


Partial duplication of the phalanges of the hallux


Ivory epiphysis of the proximal phalanx of the 3rd finger


Abnormal circulating testosterone concentration


Aplasia/Hypoplasia of the proximal phalanx of the 5th finger


Bullet-shaped proximal phalanx of the hallux


Osteolytic defects of the distal phalanx of the 4th toe


Bullet-shaped distal phalanx of the 4th toe


Increased circulating guanosine concentration


Abnormal electrophysiology of sinoatrial node origin


Symphalangism affecting the distal phalanx of the 4th toe


Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis


Elevated CSF gamma-aminobutyric acid concentration


Aplasia/hypoplasia involving bones of the upper limbs


Complete duplication of the middle phalanx of the 3rd toe


Focal impaired awareness sensory seizure with olfactory features


Increased circulating surfactant protein level


Left aortic arch with right descending aorta and right ductus arteriosus


Partial duplication of the proximal phalanx of the 4th finger


Decreased lymphocyte proliferation in response to anti-CD3


Melanin pigment aggregation in hair shafts


Increased anti-bacteria IgE antibody level


cutis marmorata telangiectatica congenita


Abnormal alveolar type II pneumocyte morphology


Ivory epiphysis of the distal phalanx of the 4th finger


Cortical radial artery intima/media liquefactive necrosis


Enlarged epiphysis of the middle phalanx of the 2nd finger


Abnormal left ventricular outflow tract morphology


Abnormal fetal central nervous system morphology


Smooth septal thickening on pulmonary HRCT


Anti-aminoacyl-tRNA synthetase antibody positivity


Decreased specific antibody response to infection


Abnormality of ductus venosus blood flow


Fragmentation of the epiphyses of the 4th finger


Predominantly dermal neutrophilic infiltrate


Abnormal circulating pregnenolone concentration


Abnormal female reproductive system physiology


Abnormal circulating deoxycorticosterone level


Abnormal amyloid beta 40 peptide CSF concentration


Focal impaired awareness emotional seizure with paranoia


Double inlet atrioventricular connection


Triangular epiphysis of the distal phalanx of the 3rd finger


Patchy sclerosis of the distal phalanx of the hallux


Abnormal renal arteriole intima/media morphology


Abnormal CSF glutamine family amino acid concentration


Distal/middle symphalangism of 2nd finger


Abnormality of the epiphyses of the elbow


Abnormal male urethral meatus morphology


Aplasia/Hypoplasia of the frontal sinuses


Increased anti-gluten IgE antibody level


Increased anti-nut food product IgE antibody level


Focal cognitive seizure with dyscalculia/acalculia


Increased anti-animal protein IgE antibody level


Fractured epiphysis of middle phalanx of manus


Abnormal A-type atrial natriuretic peptide level


Infracardiac total anomalous pulmonary venous connection


Right sided atrium to left ventricle and absent left sided atrioventricular connection


Triangular shaped phalanges of the 5th toe


Abnormal mandible coronoid process morphology


Slit-like opening of the exterior auditory meatus


Thinning of the substantia nigra pars compacta


Stippling of the epiphyses of the 5th toe


Decreased small intestinal mucosa lactase level


Irregular epiphysis of the proximal phalanx of the 5th toe


Abnormality of the bed nucleus of stria terminalis


Abnormal circulating carnosine concentration


Large clumps of pigment irregularly distributed along hair shaft


Fractured distal phalanx of pedal digit 1


Duplication of the proximal phalanx of the hallux


Magnesium ammonium phosphate crystalluria


Duplication of bones involving the upper extremities


focal epithelial hyperplasia of the oral mucosa


Reduced proximal interphalangeal joint space


Anti-cyclic citrullinated peptide antibody positivity


Absent ossification of cervical vertebral bodies


Increased circulating hypoxanthine concentration


Hypermobility of distal interphalangeal joints


Glomerular capillary wall duplication without cellular interposition


Increased glucose-6-phosphate dehydrogenase level in red blood cells


Increased anti-plant product IgE antibody level


Enlarged epiphysis of the distal phalanx of the 4th finger


Elevated circulating o-phosphoserine concentration


Increased circulating insulin-like growth factor 1 concentration


Increased urinary 11-deoxycortisol level


Absent left sided atrioventricular connection


Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole


Contracture of the proximal interphalangeal joint of the 3rd toe


Increased circulating copper concentration


Decreased circulating purine concentration


hypertrichosis cubiti-short stature syndrome


Abnormality of the protein C anticoagulant pathway


Supraventricular tachycardia with a manifest accessory pathway on the right free wall


Abnormality of hepatobiliary system physiology


Irregular epiphysis of the proximal phalanx of the 2nd toe


Left aortic arch with retroesophageal right subclavian artery


Abnormal esterified to free carnitine ratio


Decreased proportion of class-switched memory B cells


Small epiphysis of the distal phalanx of the hallux


Recurrent, involuntary and intrusive distressing memories


Increased level of hexanoylglycine in urine


Fibrofatty replacement of right ventricular myocardium


Metatarsal diaphyseal endosteal sclerosis


CSF anti-NMDA receptor antibody positivity


Focal impaired awareness emotional seizure with fear/anxiety/panic


Aplasia/Hypoplasia involving the sinuses


Peg-like central prominence of distal tibial metaphyses


Focal impaired awareness sensory seizure with cephalic sensation


Complete duplication of the proximal phalanx of the 4th finger


Abnormal circulating beta globulin level


Increased proportion of effector memory CD4-positive, alpha-beta T cells


Neonatal insulin-dependent diabetes mellitus


Impaired ristocetin-induced platelet aggregation


Abnormal proportion of CD4-positive T cells


Patchy sclerosis of the proximal phalanx of the hallux


Bracket epiphysis of the middle phalanx of the 5th toe


Increased carotid artery intimal medial thickness


Abnormality of the epiphysis of the proximal phalanx of the 3rd finger


Increased urinary 11-deoxytetrahydrocorticosterone level


Extension of hair growth on temples to lateral eyebrow


Focal impaired awareness pedal automatism seizure


Abnormal glucose-6-phosphate dehydrogenase level in red blood cells


myeloproliferative disorder, chronic, with eosinophilia


Abnormality of the musculature of the thorax


Reduced proportion of mucosal-associated invariant T cells


Morphological abnormality of the vestibule of the inner ear


Agenesis of primary mandibular central incisor


Increased CSF phenylalanine concentration


Fetal intraventricular hemorrhage with periventricular hemorrhage


Complete duplication of the phalanges of the 3rd finger


Pseudoepiphysis of the middle phalanx of the 2nd finger


Focal impaired awareness cognitive seizure with memory impairment


Abnormal circulating neopterin concentration


myelodysplastic syndrome with ring sideroblasts


Cuboid-shaped thoracolumbar vertebral bodies


Increased level of hippuric acid in urine


Focal-onset seizure evolving into bilateral convulsive status epilepticus


Anti-asparaginyl-tRNA synthetase antibody positivity


Morphological abnormality of the semicircular canal


Anti-topoisomerase I antibody positivity


Patchy sclerosis of the proximal phalanx of the 5th toe


Partial duplication of the distal phalanx of the 4th toe


Abnormality of the middle phalanx of the 3rd finger


Abnormality of levator veli palatini muscle


Posterior fossa cyst at the fourth ventricle


Elevated circulating apolipoprotein A-IV concentration


Spinal stenosis with reduced interpedicular distance


Congenital malformation of the great arteries


Anomalous insertion of papillary muscle directly into anterior mitral leaflet


Abnormal upper limb metaphysis morphology


Irregular epiphysis of the distal phalanx of the 4th finger


Absence of stomach bubble on fetal sonography


Anti-asialoglycoprotein receptor antibody positivity


Bracket epiphysis of the proximal phalanx of the 5th toe


Nodular-random pattern on pulmonary HRCT


Double inlet to single ventricle with common atrioventricular orifice


Eosinophilic microabscess formation in the esophagus


Abnormal response to glucagon stimulation test


Curved proximal phalanx of the 2nd finger


Abnormal morphology of erythroid progenitor cell


Abnormality of the epiphysis of the distal phalanx of the 3rd finger


Cone-shaped epiphysis of the distal phalanx of the 3rd finger


Bracket epiphysis of the middle phalanx of the 4th toe


Contracture of the metatarsophalangeal joint of the 3rd toe


Abnormal circulating threonine concentration


Increased extraneuronal autofluorescent lipopigment


EEG with generalized epileptiform discharges


Decreased platelet glycoprotein IIb-IIIa


Duplication of the proximal phalanx of the 5th finger


Dysplastic distal thumb phalanges with a central hole


Focal aware sensory seizure with olfactory features


Abnormal glomerular visceral epithelial cell morphology


Recurrent mycobacterium avium complex infections


Abnormal circulating nucleobase concentration


Periosteal new bone of humeral diaphysis


Pseudoepiphysis of the proximal phalanx of the 3rd toe


Enlargement of the distal femoral epiphysis


Loss of Purkinje cells in the cerebellar vermis


Abnormal circulating branched chain amino acid concentration


Neonatal seizure with bilateral asymmetric automatism


Abnormality of digestive system physiology


Elevated circulating 3-hydroxypalmitoleylcarnitine concentration


Fractured epiphysis of second metacarpal bone


Arcuate artery endoarterial lymphocyte hypercellularity


Interlobular vein intima/media coagulative necrosis


Abnormal lower-limb motor evoked potentials


Abnormal circulating lysine concentration


Irregular epiphysis of the proximal phalanx of the 4th finger


Abnormality of the musculature of the thigh


Fractured distal phalanx of manual digit 4


Increased circulating beta-C-terminal telopeptide level


Complete duplication of the phalanges of the 5th finger


Absent epiphysis of the proximal phalanx of the 2nd finger


Bullet-shaped distal phalanx of the 4th finger


Abnormal cortical radial artery intima/media morphology


Aplasia/Hypoplasia of the pyramidal tract


Hemosiderin-laden macrophages in bronchoalveolar fluid


Disproportionate short-trunk short stature


Increased serine family amino acid in urine


Pallor of dorsal columns of the spinal cord


Decreased circulating beta-2-microglobulin level


Effort-induced polymorphic ventricular tachycardia


Abnormal circulating homocysteine concentration


Saccular descending thoracic aortic aneurysm


Increased glutamine family amino acid level in urine


Contractures of the metacarpophalangeal joint of the thumb


Morphological abnormality of the posterior semicircular canal


Enlarged epiphysis of the proximal phalanx of the thumb


Abnormal spatial orientation of the cardiac segments


Increased level of 3-hydroxy-3-methylglutaric acid in urine


Abnormal morphology of the musculature of the neck


Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


Aplasia/Hypoplasia of the cervical spine


Abnormality of the proximal tibial epiphysis


Intraluminal thrombi within interlobular veins


Focal impaired awareness cognitive seizure with hallucination


Aplasia/Hypoplasia of the 1st metacarpal


Osteolytic defect of the proximal toe phalanx


EEG with frontal epileptiform discharges


Abnormality of the epiphyses of the hallux


Fragmentation of the epiphyses of the 2nd finger


Small epiphysis of the distal phalanx of the 3rd toe


Abnormality of the temporomandibular joint


Interlobular vein intima/media venulitis


Abnormal platelet dense granule ATP/ADP ratio


Bilateral sensorineural hearing impairment


Generalized hypotonia due to defect at the neuromuscular junction


Abnormality of digestive system morphology


Ivory epiphysis of the distal phalanx of the 5th toe


Decreased proportion of transitional B cells


Elevated circulating myoglobin concentration


Abnormality of the proximal humeral epiphysis


Elevated vascular endothelial growth factor level


Absent epiphyses of the middle phalanges of the hand


Uni- and bilateral multifocal epileptiform discharges


Aplasia/Hypoplasia of the proximal phalanx of the hallux


Morphological abnormality of the gastrointestinal tract


Fractured distal epiphysis of distal phalanx of manual digit 1


Pseudoepiphysis of the proximal phalanx of the 5th finger


Partial duplication of the distal phalanges of the hand


Arteriovenous malformation of the maxilla


Abnormal metacarpal epiphysis morphology


Glomerular endocapillary leukocyte hypercellularity


Supraventricular tachycardia with a manifest accessory pathway


Abnormality of the phalanges of the toes


Sclerosis of the middle phalanx of the 2nd finger


Stippling of the epiphysis of the distal phalanx of the thumb


Absent end-diastolic umbilical artery flow


Paradoxical increased cortisol secretion on dexamethasone suppression test


Irregular epiphysis of the middle phalanx of the 5th finger


Sclerosis of the middle phalanx of the 2nd toe


Increased density of left ventricular trabeculae


Advanced pneumatization of the mastoid process


Focal autonomic seizure with pupillary dilation/constriction


Abnormality of the epiphysis of the proximal phalanx of the 5th finger


Bicuspid aortic valve with right-left cusp fusion


Abnormal circulating prealbumin concentration


Abnormality of prenatal development or birth


Organized thrombi within interlobular vein lumen


Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration


Fragmentation of the epiphysis of the distal phalanx of the 2nd finger


Aplasia of the distal phalanges of the toes


Abnormality of the kinin-kallikrein system


Abnormal resting energy expenditure from metabolic cart test


Abnormal umbilical blood flow measurement


2nd-5th toe middle phalangeal hypoplasia


Mesial parasagittal subcortical heterotopia


Cone-shaped epiphysis of the proximal phalanx of the 3rd finger


Elevated circulating isovalerylcarnitine concentration


Abnormality of the lumbosacral nerve plexus


Pulmonary interstitial lymphocyte infiltration


Osteolytic defects of the middle phalanges of the toes


Bullet-shaped middle phalanx of the 2nd toe


Abnormal surface-connected open canalicular system


Focal impaired awareness undressing automatism seizure


Abnormality of the distal phalanx of the thumb


Premature delivery because of cervical insufficiency or membrane fragility


Irregular articular surfaces of the elbow joints


Increased urine sebacic acid concentration


Focal impaired awareness behavior arrest seizure


Abnormal proportion of exhausted T cells


Bracket epiphysis of the proximal phalanx of the 4th toe


Proximal femoral metaphyseal abnormality


Anomalous origin of left pulmonary artery from ascending aorta


Supraventricular tachycardia with a concealed accessory pathway on the left free wall


Morphological abnormality of the utricle


46,XX ovotesticular disorder of sex development


Focal impaired awareness cognitive seizure with illusion


Focal impaired awareness emotional seizure with agitation


Abnormal CSF homocarnosine concentration


Irregular epiphysis of the proximal phalanx of the 3rd toe


Complete duplication of the proximal phalanx of the 2nd finger


Abnormal circulating transferrin concentration


Bullet-shaped phalanges of the 4th finger


continuous spikes and waves during sleep


Abnormal circulating androstenedione concentration


Abnormal arcuate vein intima/media morphology


Symphalangism of middle phalanx of 4th finger


Bullet-shaped proximal phalanx of the 4th finger


Aplasia of the proximal phalanges of the hand


Small epiphysis of the proximal phalanx of the thumb


Decreased circulating beta-C-terminal telopeptide level


Abnormal interlobular vein intima/media morphology


Hypersegmentation of proximal phalanx of third finger


Reduced production of facial expressions


Decreased glucose-6-phosphate dehydrogenase level in tissue


Aplasia involving bones of the extremities


Anti-carbonic anhydrase II antibody positivity


Elevated circulating acylcarnitine concentration


Fragmentation of the epiphysis of the distal phalanx of the thumb


Abnormality of the musculature of the limbs


Bracket epiphyses of the middle phalanges of the hand


Abnormality of small intestinal villus morphology


Elevated circulating octenoylcarnitine concentration


Synostosis involving bones of the upper limbs


Stippled calcification of the humeral epiphyses


Triangular epiphysis of the distal phalanx of the 4th finger


Fractured distal phalanx of manual digit 2


Renal arteriole intima/media amyloidosis


Short chordae tendineae of the tricuspid valve


Anti-citrullinated protein antibody positivity


Glomerular endocapillary foam-cell hypercellularity


Short metacarpals with rounded proximal ends


Increased circulating myristoleate level


Segmental glomerulosclerosis away from the vascular and tubular poles


Cortical radial artery foam cell hypercellularity


Juvenile type ovarian granulosa cell tumor


Cortical subperiosteal resorption of humeral metaphyses


polymicrogyria, bilateral perisylvian, X-linked


Abnormality of the twelfth cranial nerve


Congenital sensorineural hearing impairment


Decreased circulating apolipoprotein concentration


Facial palsy secondary to cranial hyperostosis


Abnormality of somatosensory evoked potentials


Increased hepatitis A virus antibody level


Triangular epiphysis of the middle phalanx of the 2nd toe


Fragmentation of the epiphyses of the proximal phalanges of the hand


Duplication of the middle phalanx of the 4th toe


Aplasia/Hypoplasia of the fifth metatarsal bone


Patchy sclerosis of the distal phalanx of the 4th finger


Thyrotoxicosis from ectopic thyroid tissue


Elevated urine 4-methyl-2-oxopentanoic acid level


Extra-axial cerebrospinal fluid accumulation


Fractured middle phalanx of pedal digit 3


Small epiphysis of the distal phalanx of the 4th finger


T cell chronic lymphocytic lymphoma/leukemia


Elevated serum transaminases during infections


Bilateral superior vena cava with bridging vein


Osseous stenosis of the external auditory canal


Cortical radial artery medial hypertrophy


Early ossification of capital femoral epiphyses


Symphalangism affecting the proximal phalanx of the 4th toe


Fragmentation of the epiphysis of the distal phalanx of the 5th toe


Complete duplication of the distal phalanges of the hand


Abnormal CD69 upregulation upon TCR activation


Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity


Complete duplication of the proximal phalanges of the hand


Fragmentation of the epiphysis of the distal phalanx of the 2nd toe


Multifocal hypointensity of cerebral white matter on MRI


Contracture of the proximal interphalangeal joint of the 2nd finger


Patchy sclerosis of the distal phalanx of the 5th toe


Incomplete ossification of palatine bone


Abnormality of the medullary cavity of the long bones


Partial duplication of the middle phalanx of the 4th toe


Delayed self-feeding during toddler years


congenital unilateral hypoplasia of depressor anguli oris


Neonatal wrinkled skin of hands and feet


Focal impaired awareness non-motor seizure


Morphological abnormality of the inner ear


Enlarged epiphysis of the middle phalanx of the 5th toe


Fragmentation of the epiphysis of the middle phalanx of the 2nd toe


Increased circulating nicotinurate level


Fatigable weakness of respiratory muscles


Aplasia/Hypoplasia of the distal phalanx of the 3rd toe


Decreased proportion of naive CD4 T cells


Symphalangism affecting the proximal phalanx of the 5th finger


Abnormal CD4+CD25+ regulatory T cell proportion


Abnormal mandible condylar process morphology


Abnormal medullary peritubular capillary lumen morphology


Triangular epiphysis of the distal phalanx of the thumb


Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology


Duplication of the middle phalanx of the 5th toe


Interphalangeal joint contracture of finger


Lower extremity peripheral arterial calcification


Abnormality of lower limb epiphysis morphology


Increased circulating androgen concentration


Cortical peritubular capillary lumen cholesterol emboli


Foam cells with lamellar inclusion bodies


Decreased post-bronchodilator forced vital capacity


Renal arteriole intima/media crystal accumulation


Proximal phalangeal periosteal thickening


Focal impaired awareness epileptic spasm


Abnormal circulating 18-hydroxycorticosterone level


Slender long bones with narrow diaphyses


Abnormality of the epiphysis of the distal phalanx of the 2nd finger


Abnormality of the epiphysis of the distal phalanx of the 2nd toe


Impaired growth-hormone response to glucagon stimulation test


Cone-shaped epiphysis of the distal phalanx of the hallux


Abnormally loud pulmonic component of the second heart sound


Prelingual sensorineural hearing impairment


Triangular epiphysis of the 1st metacarpal


Duplication of the proximal phalanx of the 2nd toe


Abnormal dermoepidermal hemidesmosome morphology


Irregular epiphysis of the middle phalanx of the 4th finger


Insulin-resistant diabetes mellitus at puberty


Abnormal cutaneous collagen fibril morphology


Partial left sided absence of pericardium


Anti-parotid secretory protein antibody positivity


Abnormal circulating fatty-acid anion concentration


Osteolytic defects of the middle phalanx of the 3rd finger


Focal impaired awareness motor seizure with version


Thyrotoxicosis with toxic single thyroid nodule


Abnormality of cardiovascular system morphology


Abnormal morphology of the great vessels


Focal impaired awareness cognitive seizure with auditory agnosia


Abnormal epidermis stratum granulosum morphology


Symphalangism affecting the proximal phalanx of the 2nd toe


Aplasia/Hypoplasia of the distal phalanx of the 4th toe


T-wave inversion in the right precordial leads


Arcuate artery endoarterial hypercellularity


Developmental stagnation at onset of seizures


Aplasia/Hypoplasia involving bones of the feet


Focal non-convulsive status epilepticus without coma


Synostosis of the proximal phalanx of the thumb with the 1st metacarpal


congenital high-molecular-weight kininogen deficiency


Focal aware autonomic seizure with pallor/flushing


Triangular shaped proximal phalanx of the 2nd toe


Symphalangism affecting the distal phalanges of the toes


Abnormal superior cerebellar peduncle morphology


Increased hepatitis C virus antibody level


Focal non-convulsive status epilepticus with impairment of consciousness


Abnormality of the pulmonary vasculature


Abnormal fetal gastrointestinal system morphology


Right ventricular noncompaction cardiomyopathy


Focal motor seizure with dysarthria/anarthria


Osteolytic defects of the phalanges of the 2nd toe


EEG with generalized slow activity grade 4


Focal aware sensory seizure with somatosensory features


Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal


Abnormal CD25 upregulation upon TCR activation


Duplication of the distal phalanx of the 4th toe


Childhood-onset short-trunk short stature


Pseudoepiphysis of the distal phalanx of the 2nd finger


Abnormal calcification of the carpal bones


Symphalangism affecting the distal phalanx of the 2nd toe


Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries


Abnormality of the middle phalanx of the 2nd toe


Renal arteriole intima/media coagulative necrosis


Aplasia/Hypoplasia of the phalanges of the hallux


Increased glucose-6-phosphate dehydrogenase level in dried blood spot


Abnormal circulating unsaturated fatty acid concentration


Hereditary nonpolyposis colorectal carcinoma


Impaired cortisol response to corticotropin releasing hormone stimulation test


Duplication of the proximal phalanx of the 4th finger


Stippling of the epiphysis of the distal phalanx of the 2nd finger


Decreased circulating free T4 concentration


Synostosis involving bones of the lower limbs


Complete duplication of the phalanges of the 4th finger


Morphological abnormality of the lateral semicircular canal


Mediosternal, longitudinal streak of hypopigmentation


Mildly reduced left ventricular ejection fraction


Small epiphysis of the distal phalanx of the 4th toe


Abnormal renal corticomedullary differentiation


Increased anti-house dust mite IgE antibody level


Abnormal amyloid beta peptide CSF concentration


congenital non-bullous ichthyosiform erythroderma


Reduced contraction of the left ventricular apex


Decreased specific antibody response to polysaccharide vaccine


Abnormal circulating long-chain fatty-acid concentration


Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis


Anti-glomerular basement membrane-antibody positivity


Bracket epiphyses of the distal phalanges of the hand


Abnormality of the epiphysis of the middle phalanx of the 3rd finger


Profound sensorineural hearing impairment


Left aortic arch with cervical origin of the right subclavian artery


Abnormal delayed hypersensitivity skin test


Absent fourth finger distal interphalangeal crease


Progressive sensorineural hearing impairment


Decreased number of small peripheral myelinated nerve fibers


Weakness of long finger extensor muscles


Abnormal tubular basement membrane morphology


Midline skin dimples over anterior/posterior fontanelles


Abnormal circulating glycine concentration


Increased circulating metamyelocyte count


Blebbing of apical cytoplasm of renal tubular epithelial cells


Cone-shaped epiphysis of the middle phalanx of the 4th toe


Abnormal proportion of double-negative alpha-beta regulatory T cell


Abnormality of the epiphysis of the middle phalanx of the 4th finger


Pseudoepiphysis of the proximal phalanx of the 3rd finger


Decreased circulating dehydroepiandrosterone-sulfate concentration


Permanent junctional reciprocating tachycardia


Sclerotic radial metaphysis with longitudinal striations


Adrenocorticotropin deficient adrenal insufficiency


Focal emotional seizure with fear/anxiety/panic


Non-convulsive status epilepticus with coma


Abnormal brainstem white matter morphology


Impaired growth-hormone response to insulin stimulation test


Patchy sclerosis of the distal phalanx of the 3rd toe


Thickening of the tubular basement membrane


Postural hypotension with compensatory tachycardia


Sclerosis of the distal phalanx of the 3rd finger


Abnormal pulmonary alveolar system development


Increased number of elastic fibers in the dermis


Marked delay in eruption of permanent teeth


Pseudoepiphysis of the distal phalanx of the hallux


Malignant neoplasm of the central nervous system


Enlarged epiphysis of the distal phalanx of the 5th finger


Aplasia of the distal phalanx of the 2nd finger


Irregular epiphysis of the middle phalanx of the 3rd toe


Enlarged epiphysis of the middle phalanx of the 2nd toe


Delayed upper limb epiphyseal ossification


Reduced proportion of CD4+ effector memory T cells


Premature epimetaphyseal fusion in radius


Elevated bronchoalveolar lavage fluid neutrophil proportion


Complete duplication of the distal phalanx of the 4th toe


Triangular epiphysis of the distal phalanx of the 5th toe


Unilateral multifocal epileptiform discharges


Bullet-shaped distal phalanx of the 3rd toe


Cutaneous atresia of the external auditory canal


Duplication of the distal phalanx of the 3rd toe


Bullet-shaped proximal phalanx of the 3rd finger


Focal impaired awareness autonomic seizure with pupillary dilation/constriction


Cortical radial artery lumen cholesterol emboli


Abnormal arcuate artery endothelium morphology


Complete duplication of the distal phalanx of the hallux


Impaired renal tubular reabsorption of phosphate


Pseudoepiphysis of the middle phalanx of the 4th finger


Osteoarthritis of the small joints of the hand


Abnormal concentration of acylcarnitine in the urine


Increased level of propylene glycol in blood


Symphalangism affecting the phalanges of the 5th toe


Increased mean corpuscular hemoglobin concentration


Abnormal natural killer subset distribution


Chronic partially decreased circulating IgG3


Neutropenia in presence of anti-neutropil antibodies


Focal impaired awareness motor seizure with paresis/paralysis


Decreased proportion of gamma-delta T cells


Stippling of the epiphysis of the proximal phalanx of the 3rd toe


Abnormality of medullary pyramid morphology


Elevated urinary delta-aminolevulinic acid


Bicuspid aortic valve with left-noncoronary cusp fusion


Aplasia/hypoplasia of the proximal phalanx of the 2nd toe


Hyposegmentation of neutrophil nuclei in CSF


Impaired calcium ionophore-induced platelet aggregation


Osteolytic defects of the 1st metacarpal


Triangular epiphysis of the distal phalanx of the 3rd toe


Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Triangular shaped middle phalanges of the toes


Abnormal motor nerve conduction velocity


Increased proportion of marginal zone B cells


Triangular epiphysis of the middle phalanx of the 4th toe


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


Corticotropin-releasing hormone receptor defect


Increased anti-feather IgE antibody level


Single interphalangeal crease of fifth finger


Aplasia/Hypoplasia of the proximal phalanges of the hand


Aplasia of the distal phalanges of the hand


Osteolytic defects of the proximal phalanx of the 4th toe


Symphalangism affecting the middle phalanx of the 5th toe


Glomerular hyalinosis at the tubular pole


Abnormal urinary nucleobase concentration


Pseudoepiphysis of the distal phalanx of the 5th finger


Aplasia of the distal phalanx of the 4th finger


Fragmentation of the epiphysis of the middle phalanx of the 2nd finger


EEG with photoparoxysmal response grade IV


Increased anti-dust mite IgE antibody level


Non-convulsive status epilepticus without coma


Anti-bactericidal/permeability-increasing protein antibody positivity


Abnormal circulating aspartic acid concentration


Renal tubular epithelial cell hemosiderin


Abnormality of the epiphysis of the distal phalanx of the thumb


Contractures of the carpometacarpal joint of the thumb


Anomalous origin of coronary artery from the pulmonary artery


Renal interstitial necrotizing granulomas


Bracket epiphysis of the distal phalanx of the 4th finger


Glomerular hyalinosis away from the vascular and tubular poles


Abnormality of the distal fibular epiphysis


Abnormal nonverbal communicative behavior


Osteolytic defects of the proximal phalanx of the 3rd finger


Stippling of the epiphyses of the middle phalanges of the hand


Synostosis of second metacarpal-trapezoid


Bracket epiphysis of the middle phalanx of the 4th finger


Abnormality of the parathyroid physiology


Abnormal tricuspid chordae tendinae morphology


Post-angioplasty coronary artery restenosis


Complete duplication of the proximal phalanx of the 5th toe


Abnormality of the epiphysis of the distal phalanx of the 3rd toe


Focal impaired awareness emotional seizure with laughing


Aplasia/Hypoplasia of the distal phalanges of the hand


Bracket epiphysis of the middle phalanx of the 2nd toe


Abnormality of endocrine pancreas physiology


Cone-shaped epiphyses of the proximal phalanges of the hand


Increased uridine diphosphate glucose-4-epimerase level in plasma


Arcuate vein intimal/medial storage material accumulation


Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena


Diminished health-related quality of life


Anti-phosphatidyl glycerol antibody positivity


Abnormal lower-limb metaphysis morphology


Symphalangism affecting the middle phalanx of the 2nd toe


Glomerular endothelial tubuloreticular inclusion


Elevated circulating catecholamine level


Increased urinary 11-deoxycorticosterone level


Decreased growth hormone responses to growth hormone-releasing hormone challenge


Non-restrictive ventricular septal defect


Ivory epiphysis of the distal phalanx of the thumb


Abnormality of the proximal phalanx of the 4th finger


Anti-endothelin-1 type A receptor antibody positivity


Intralamellar mucoid extracellular matrix accumulation


Sensorimotor polyneuropathy affecting arms more than legs


Disproportionate shortening of the tibia


EEG with generalized slow activity grade 1


polyposis of gastric fundus without polyposis coli


Irregular epiphysis of the proximal phalanx of the 5th finger


Premature coronary artery atherosclerosis


Elevated circulating sacchoropine concentration


Abnormal brain choline/creatine ratio by MRS


Short proximal phalanx of the 5th finger


Aplasia/hypoplasia of the 1st metatarsal


Complete duplication of the distal phalanx of the 5th finger


Osteolytic defects of the 1st metatarsal


Distal/middle symphalangism of 3rd finger


Small epiphysis of the middle phalanx of the 3rd finger


Abnormal brain N-acetyl aspartate level by MRS


Focal impaired awareness myoclonic seizure


Triangular epiphysis of the proximal phalanx of the 5th toe


Abnormal circulating bilirubin concentration


Abnormal internal carotid artery morphology


Focal impaired awareness vocal automatism seizure


Small epiphysis of the proximal phalanx of the hallux


Osteolytic defects of the phalanges of the 5th toe


Abnormal cortical radial artery endothelium morphology


Aplasia/Hypoplasia of the musculature of the thigh


Anti-myelin-associated glycoprotein antibody positivity


EEG with hyperventilation-induced epileptiform discharges


Irregular ossification of the radial metaphysis


Bilateral tonic-clonic seizure with focal onset


Delayed proximal femoral epiphyseal ossification


Double inlet to single ventricle of indeterminate morphology


Supraventricular tachycardia with a concealed accessory pathway on the right free wall


Abnormal platelet ATP dense granule secretion


Excessive bleeding from superficial cuts


Focal T2 hypointense basal ganglia lesion


Elevated circulating 3-hydroxylinoleylcarnitine concentration


Abnormal cadiomyocyte dystrophin staining


Abnormal sperm principal piece morphology


Aplasia/Hypoplastia of the eccrine sweat glands


Anomalous origin of the left circumflex artery from the right coronary artery


Cortical radial artery intimal mucoid edema


Abnormality of circulating cortisol level


Entrapment neuropathy of the ulnar nerve at elbow


Abnormal epiphysis morphology of the phalanges of the hand


Decreased circulating free fatty acid level


Pseudoepiphysis of the middle phalanx of the 2nd toe


Sclerosis of the middle phalanx of the 3rd finger


Abnormal cardiovascular system physiology


Bracket epiphysis of the proximal phalanx of the 2nd finger


Elevated forced expiratory volume in one second


Incomplete partition of the cochlea type I


Aplasia/Hypoplasia of the distal phalanx of the 4th finger


Increased glucose-6-phosphate dehydrogenase level in leukocytes


Absent ossification of thoracic vertebral bodies


Impaired ADP-induced platelet aggregation


Elevated CD4-positive, CD25-positive regulatory T cell count


Agenesis of permanent mandibular lateral incisor


Abnormality of depressor labii inferioris


Elevated circulating soluble CD25 concentration


Ubiquitin-positive cerebral inclusion bodies


Seizure precipitated by febrile infection


Abnormal phalangeal joint morphology of the hand


Abnormal proportion of central memory CD8-positive, alpha-beta T cells


Sonographic non-visualized fetal bladder


Complete duplication of the distal phalanx of the 2nd finger


Focal impaired awareness hemiclonic seizure


Impaired visually enhanced vestibulo-ocular reflex


Absent bronchoalveolar surfactant-protein C


Pseudoepiphysis of the distal phalanx of the 5th toe


Elevated circulating oleylcarnitine concentration


Irregular septal thickening on pulmonary HRCT


Contracture of the metatarsophalangeal joint of the 4th toe


Cone-shaped epiphyses of the distal phalanges of the hand


Complete duplication of the distal phalanx of the 3rd finger


Decreased glucose-6-phosphate dehydrogenase level in red blood cells


Intracranial internal carotid artery dissection


Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Enlarged epiphysis of the 1st metacarpal


Sclerotic humeral metaphysis with longitudinal striations


Hyperintensity of MRI T2 signal of the spinal cord


Aplasia of the proximal phalanx of the 5th toe


Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe


Abnormality of the middle phalanx of the 4th finger


Renal tubular epithelial cell hyaline droplets


Osteolytic defects of the distal phalanx of the 4th finger


Fragmentation of the epiphyses of the hallux


Aplasia of the distal phalanx of the 5th toe


Increased proportion of naive CD8 T cells


Steroid-sensitive nephrotic syndrome with infrequent relapses


celiac artery stenosis from compression by median arcuate ligament of diaphragm


Triangular epiphyses of the distal phalanges of the hand


Cone-shaped epiphysis of the distal phalanx of the 2nd finger


Focal aware autonomic seizure with erection


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine


Aplasia/Hypoplasia of the distal phalanges of the toes


Reduced brain N-acetyl aspartate level by MRS


Osteomyelitis leading to amputation due to slow healing fractures


Glomerular parietal epithelial cell hypertrophy


Pseudoepiphysis of the middle phalanx of the 4th toe


Aplasia/hypoplasia of the proximal phalanx of the 4th toe


Abnormal dermoepidermal junction morphology


Abnormal circulating calcium concentration


Bracket epiphysis of the proximal phalanx of the hallux


Ivory epiphysis of the proximal phalanx of the hallux


Abnormality nasal septum cartilage morphology


Abnormal glomerular basement membrane morphology


Abnormality of the upper respiratory tract


Elevated intestinal alkaline phosphatase


Small epiphysis of the proximal phalanx of the 3rd finger


Abnormal circulating fetuin A concentration


Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Increased proportion of CD4-positive, alpha-beta memory T cells


Complete duplication of the distal phalanx of the 5th toe


Orthodromic atrioventricular reentrant tachycardia


Congenitally corrected transposition of the great arteries with ventricular septal defect


Increased anti-animal dander IgE antibody level


Abnormal common carotid artery morphology


Delayed closure of the anterior fontanelle


hyperphenylalaninemia due to tetrahydrobiopterin deficiency


Pseudoepiphysis of the distal phalanx of the 4th finger


Bullet-shaped middle phalanx of the 5th toe


Prominent nucleoli of renal tubular epithelial cells


Aplasia involving bones of the upper limbs


Triangular epiphysis of the proximal phalanx of the 3rd finger


Abnormality of the epiphyses of the proximal phalanges of the hand


Bullet-shaped distal phalanx of the 5th finger


Parathormone-independent increased renal tubular calcium reabsorption


Complete or near-complete absence of specific antibody response to meningococcus vaccine


Pyramidal skinfold extending from the base to the top of the nails


Renal tubular epithelial cell simplification


Abnormality of the epiphyses of the 3rd finger


Decreased urinary catecholamine concentration


Abnormal renal collecting system morphology


Bracket epiphysis of the proximal phalanx of the 3rd finger


Contracture of the metatarsophalangeal joint of the 5th toe


Abnormal circulating glutamate concentration


Type 3 congenital pulmonary airway malformation


Recurrent acute respiratory tract infection


Focal aware emotional seizure with anger


Small epiphyses of the phalanges of the hand


Abnormality of the epiphyses of the 4th toe


Pseudoepiphysis of the proximal phalanx of the 4th finger


Impaired cortisol response to glucagon stimulation test


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Aplasia of the proximal phalanx of the 4th finger


Deep cerebral white matter hyperintensities


Apical muscular ventricular septal defect


Reduced circulating prekallikrein concentration


Anti-Zinc transporter 8 antibody positivity


Glycogen accumulation in pulmonary interstitial cells


Glomerular basement membrane amyloid spicule


Erlenmeyer flask deformity of the femurs


Cone-shaped epiphysis of the distal phalanx of the 3rd toe


histidinuria due to a renal tubular defect


Atrophy/Degeneration affecting the cerebrum


Abnormal cortical radial artery morphology


Focal aware motor seizure with dysarthria/anarthria


Abnormal aggressive, impulsive or violent behavior


Elevated right ventricular systolic pressure


Abnormal CSF carboxylic acid concentration


Focal impaired awareness manual automatism seizure


Osteolytic defects of the proximal phalanges of the hand


Nodular-perilymphatic pattern on pulmonary HRCT


Stippling of the epiphysis of the distal phalanx of the 2nd toe


Delayed pneumatization of the mastoid process


Impaired neutrophil bactericidal activity


Elevated circulating follicle stimulating hormone level


Increased circulating NT-proBNP concentration


Elevated circulating glutarylcarnitine concentration


Increased proportion of class-switched memory B cells


Small epiphyses of the middle phalanges of the hand


Decreased low-density lipoprotein particle size


Duplication of the proximal phalanx of the 2nd finger


Partial duplication of the proximal phalanx of the hallux


Elevated circulating 5-oxoproline concentration


Reduced red cell adenosine deaminase level


Elevated CSF 4-hydroxybutyric acid concentration


Sacralization of the fifth lumbar vertebra


Curved proximal phalanx of the 3rd finger


Orthostatic hypotension due to autonomic dysfunction


Elevated fetal middle cerebral artery peak systolic velocity


Conus terminalis arteriovenous malformation


Elevated circulating D-dimer concentration


Reduced plasminogen activator inhibitor 1 activity


Nonocclusive coronary artery atherosclerosis


Symphalangism affecting the proximal phalanx of the hallux


Hyperintensity of cerebral white matter on MRI


Duplication of the distal phalanx of the 2nd finger


Abnormal vertebral segmentation and fusion


Increased theta frequency activity in EEG


Recurrent bacterial upper respiratory tract infections


Decreased post-bronchodilator forced expiratory flow 25-75%


Patchy sclerosis of the proximal phalanx of the 4th toe


Complete duplication of the proximal phalanx of the 3rd toe


Irregular ossification of humeral metaphyses


Anomalous origin of left subclavian artery


Partial duplication of the distal phalanx of the 2nd finger


Fractured distal phalanx of pedal digit 3


Aplasia of the middle phalanx of the 5th toe


Abnormality of the epiphysis of the distal phalanx of the 4th toe


Exaggerated rugosity of the labia majora


Increased circulating thyroglobulin level


Bullet-shaped middle phalanx of the 5th finger


Decreased circulating parathyroid hormone level


Impaired collagen-induced platelet aggregation


Fibrillar glomerular subepithelial deposits


Focal aware emotional seizure with crying


Left aortic arch with isolated subclavian artery


Aplasia/Hypoplasia of the distal phalanx of the thumb


Decreased circulating dihydrotestosterone concentration


Multinucleation of renal tubular epithelial cells


Cone-shaped epiphysis of the middle phalanx of the 3rd finger


Sclerosis of the middle phalanx of the 5th toe


Increased level of methylsuccinic acid in urine


Cone-shaped epiphysis of the middle phalanx of the 4th finger


Partial duplication of the proximal phalanx of the 3rd finger